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  3. TIA1
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Motor Neurone Disease

Gene: TIA1

Amber List (moderate evidence)
TIA1 (TIA1 cytotoxic granule associated RNA binding protein)
EnsemblGeneIds (GRCh38): ENSG00000116001
EnsemblGeneIds (GRCh37): ENSG00000116001
OMIM: 603518, Gene2Phenotype
TIA1 is in 4 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Amyotrophic lateral sclerosis 26 with or without frontotemporal dementia, MIM# 619133

Created: 16 Jan 2021, 12:20 a.m.
Last Modified: 16 Jan 2021, 12:20 a.m.
Panel version: 0.116

Bryony Thompson (Royal Melbourne Hospital)

I don't know

>3 cases with ALS and functional studies, but no true replication study
Sources: Expert list
Created: 31 Mar 2020, 11:41 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Publications

Created: 31 Mar 2020, 11:41 p.m.

Panel version: 0.32

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Expert list
Phenotypes
  • Amyotrophic lateral sclerosis 26 with or without frontotemporal dementia 619133
OMIM
603518
Clinvar variants
Variants in TIA1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

16 Jan 2021, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: TIA1 were changed from to Amyotrophic lateral sclerosis 26 with or without frontotemporal dementia 619133

31 Mar 2020, Gel status: 2

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: tia1 has been classified as Amber List (Moderate Evidence).

31 Mar 2020, Gel status: 2

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: tia1 has been classified as Amber List (Moderate Evidence).

31 Mar 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications

Bryony Thompson (Royal Melbourne Hospital)

gene: TIA1 was added gene: TIA1 was added to Motor Neuron Disease. Sources: Expert list Mode of inheritance for gene: TIA1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: TIA1 were set to 29235362; 29886022; 29773329; 29699721; 29216908; 24659297; 29457785; 28817800 Review for gene: TIA1 was set to AMBER